Variant report

Variant	rs2137052
Chromosome Location	chr15:83484956-83484957
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:83484305-83485030	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:83477632..83480172-chr15:83484528..83487051,2	MCF-7	breast:
2	chr15:83477828..83481866-chr15:83483118..83489176,7	K562	blood:
3	chr15:83484279..83486201-chr15:83497779..83499925,2	K562	blood:

Variant related genes	Relation type
WHAMM	TF binding region
ENSG00000156232	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1105287	0.90[EUR][1000 genomes]
rs11631033	0.87[EUR][1000 genomes]
rs11631209	0.87[EUR][1000 genomes]
rs11631378	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11633676	0.90[EUR][1000 genomes]
rs11635290	0.88[EUR][1000 genomes]
rs11635357	0.87[EUR][1000 genomes]
rs11637448	0.82[EUR][1000 genomes]
rs11637563	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11857233	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12907810	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12914752	0.82[EUR][1000 genomes]
rs12917248	0.88[EUR][1000 genomes]
rs1553886	0.90[EUR][1000 genomes]
rs17158255	0.86[ASN][1000 genomes]
rs34337936	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35590674	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35852340	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35989107	0.90[EUR][1000 genomes]
rs35989256	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3814281	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3814282	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4132210	0.90[EUR][1000 genomes]
rs4779061	0.89[EUR][1000 genomes]
rs57252413	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60414706	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61326720	0.83[AMR][1000 genomes]
rs72753973	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv977747	chr15:83479370-83496161	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	nsv9288	chr15:83479484-83496828	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83479600-83485800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:83479600-83504200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:83479800-83504000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:83480000-83485600	Weak transcription	Esophagus	oesophagus
5	chr15:83480000-83497000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:83480000-83501600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:83480200-83485400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr15:83480200-83487400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr15:83480200-83489000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:83480400-83485400	Weak transcription	Thymus	Thymus
11	chr15:83480400-83485800	Weak transcription	Aorta	Aorta
12	chr15:83480400-83487400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:83480400-83488400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr15:83480400-83493600	Weak transcription	Brain Germinal Matrix	brain
15	chr15:83480400-83500600	Weak transcription	Stomach Mucosa	stomach
16	chr15:83480400-83507000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr15:83481000-83485400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr15:83481000-83485800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr15:83481000-83499800	Weak transcription	Fetal Heart	heart
20	chr15:83481200-83487400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:83481200-83507200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:83481400-83485600	Weak transcription	Psoas Muscle	Psoas
23	chr15:83481400-83488000	Strong transcription	K562	blood
24	chr15:83481400-83489200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:83481400-83489600	Strong transcription	Osteobl	bone
26	chr15:83481400-83490800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr15:83481400-83492000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr15:83481400-83500800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:83481400-83507000	Strong transcription	Placenta	Placenta
30	chr15:83481600-83485400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
31	chr15:83481600-83487400	Weak transcription	Right Ventricle	heart
32	chr15:83481600-83491800	Weak transcription	Small Intestine	intestine
33	chr15:83481600-83492200	Weak transcription	Pancreas	Pancrea
34	chr15:83481600-83500800	Strong transcription	Fetal Thymus	thymus
35	chr15:83481600-83507000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr15:83481800-83488000	Strong transcription	NH-A	brain
37	chr15:83481800-83488000	Strong transcription	NHDF-Ad	bronchial
38	chr15:83481800-83488800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr15:83481800-83488800	Strong transcription	Fetal Muscle Leg	muscle
40	chr15:83481800-83489400	Strong transcription	HSMMtube	muscle
41	chr15:83481800-83489600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:83481800-83490200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:83481800-83492600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr15:83481800-83496400	Strong transcription	Liver	Liver
45	chr15:83481800-83499400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:83481800-83500000	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr15:83481800-83506200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr15:83481800-83507000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr15:83481800-83507600	Strong transcription	Adipose Nuclei	Adipose
50	chr15:83482000-83487200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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